ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.548-?_5074+?dup

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000239770 SCV000299121 uncertain significance Hereditary breast ovarian cancer syndrome 2016-01-21 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 8-16 of the BRCA1 gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. While this particular gross duplication has not been reported in the literature, exon-level duplication in BRCA1 have been reported in patients affected with Fallopian tube cancer (PMID: 24825132). In summary, this is a duplication involving in-frame duplication of the BRCA1 exons if in tandem. However, the genomic location and orientation of the duplicated sequence is unknown. For these reasons, this change has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.